A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557876



Internal ID15998599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27961883..28572171hg38UCSC Ensembl
Innerchr12:28114816..28725104hg19UCSC Ensembl
Innerchr12:28006083..28616371hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38610289
hg19610289
hg18610289
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv790137
Samples
Known GenesCCDC91, PTHLH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557876
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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